Guidance

Inherited metabolic diseases: confirmed diagnosis template GP letter

Letter templates to GPs to confirm a child's diagnosis for an inherited metabolic disease.

• From: Public Health England
• Published: 1 January 2015
• Last updated: 21 August 2017 — See all updates

Documents

Confirmed diagnosis of glutaric aciduria type 1 (GA1): template GP letter

MS Word Document, 146 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of homocystinuria (HCU): template GP letter

MS Word Document, 145 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of isovaleric acidaemia (IVA): template GP letter

MS Word Document, 147 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of isovaleric acidaemia (IVA) biochemically mild variant (932C>T): template GP letter

MS Word Document, 145 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of Medium-Chain Acyl-CoA Deficiency (MCADD): template GP letter

MS Word Document, 146 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of maple syrup urine disease (MSUD): template GP letter

MS Word Document, 144 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Confirmed diagnosis of phenylketonuria (PKU): template GP letter

MS Word Document, 143 KB

This file may not be suitable for users of assistive technology.

Request an accessible format.

If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email publications@phe.gov.uk. Please tell us what format you need. It will help us if you say what assistive technology you use.

Details

These documents are for inherited metabolic disease specialist teams to confirm a child’s diagnosis for an inherited metabolic disease:

• maple syrup urine disease
• isovaleric acidaemia
• isolvaleric acidaemia biochemically mild variant
• glutaric aciduria type 1
• homocystinuria (pyridoxine unresponsive)

Published 1 January 2015
Last updated 21 August 2017 + show all updates

1. 21 August 2017

   Updated versions of letter templates added.

2. 1 January 2015

   First published.